A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5834018



Internal ID22608953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71515729..71542039hg38UCSC Ensembl
chr2:71742859..71769169hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3826311
hg1926311
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17488006
Samples
Known GenesDYSF
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5834018
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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